Canonical Allele Identifier: CA127009
Gene: SERPINA6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.94304471C>T
GRCh37 chr14:g.94770808C>T
Revel Score:
ENST00000341584 (MANE Select) 0.518
gnomAD v2:
14:94770808 C / T
gnomAD v3:
14:94304471 C / T
gnomAD v4:
chr14-94304471-C-T
Joint Max Group AF 0.00165484 (MID)
Genomes Max Group AF 0.00130181 (AMR)
Exomes Max Group AF 0.00160249 (MID)
ClinVar RCV:
RCV000018496
ClinVar Variation:
16975
dbSNP:
28929488
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94304471C>T , CM000676.2:g.94304471C>T GRCh38
NC_000014.8:g.94770808C>T , CM000676.1:g.94770808C>T GRCh37
NC_000014.7:g.93840561C>T NCBI36
NG_011796.1:g.23881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341584.4:c.1165G>A MANE Select ENSP00000342850.3:p.Asp389Asn
ENST00000341584.3:c.1165G>A ENSP00000342850.3:p.Asp389Asn
ENST00000555056.1:c.*477G>A ENSP00000451045.1:n.*477G>A
NM_001756.3:c.1165G>A NP_001747.2:p.Asp389Asn
NM_001756.4:c.1165G>A MANE Select NP_001747.3:p.Asp389Asn
Search 100 bp 5'
Search 100 bp 3'